Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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November 19, 2012
Unilateral Cerebellar Hypoplasia
- On the basis of MRI findings, cerebellar malformations can be divided into those associated with hypoplasia and those with dysplasia; each type can show either focal or diffuse malformations.
- Focal cerebellar hypoplasia can be further subdivided into isolated vermis hypoplasia or hypoplasia of one of the cerebellar hemispheres.
- Pathologic evidence of cerebellar injury due to birth asphyxia is well described. Because of its high metabolic activity, the vermis is the structure that is most commonly involved.
- The clear demonstration of cerebellar hypoplasia associated with hypoplasia or aplasia of the cerebellar or vertebral arteries favors the concept of an intrauterine vascular etiology for cerebellar hypoplasia/aplasia. Genetic mutations with somatic mosaicism may also have a role to play.
- Also, as in our case, unilateral cerebellar hypoplasia may be an incidental finding in a patient with no previous evidence of neuromuscular or metabolic disease and no past history of trauma or anoxia.
- Cases with unilateral cerebellar hypoplasia can present with ataxia, grand mal seizures, persistent headache, or psychomotor retardation without cerebellar symptomatology.
- Key Diagnostic Features: vermian or cerebellar atrophy
- Causes of unilateral cerebellar atrophy: cerebellitis, unilateral ischemic infarction, unilateral traumatic brain injury/concussion, posterior fossa surgery, unexplained origin
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